ClinVar Miner

Variants in gene combination EVI2A, NF1

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
4 3 20 4 3 32

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 20 1 1 22
Neurofibromatosis, type 1 3 3 0 1 0 6
not provided 2 1 0 1 1 4
EVI2A-related disorder 0 0 0 0 2 2
Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 1 0 0 0 1 2
Juvenile myelomonocytic leukemia 1 0 0 0 0 1
NF1-related disorder 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 1 0 20 1 1 23
Labcorp Genetics (formerly Invitae), Labcorp 3 2 0 0 0 5
PreventionGenetics, part of Exact Sciences 0 0 0 1 2 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
GeneDx 1 0 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 1
Genome-Nilou Lab 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.